T47M (p.Thr47Met) variant of EDNRB (Endothelin receptor type B)
T47M (p.Thr47Met) in EDNRB (Endothelin receptor type B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
T47M (p.Thr47Met) variant details
- p.Thr47Met
- cosmic curated COSV57519
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 24.80
- PolyPhen-2 0.15
- SIFT 0.02
- Population evidence available
- Structural context available